| Septin 9 | |
|---|---|
| Gene Symbol | SEPT9 |
| Full Name | Septin 9 |
| Chromosome | 17q25.3 |
| NCBI Gene ID | 10801 |
| OMIM | 606551 |
| Ensembl ID | ENSG00000184640 |
| UniProt ID | Q9UQD0 |
| Associated Diseases | Hereditary Neuralgic Amyotrophy, Cancer, Parkinson's Disease |
{gene_symbol} is a member of the septin family of GTP-binding proteins involved in cytoskeleton organization and cell division.
{gene_symbol} (Septin {last_digit}) is a member of the septin family of GTP-binding proteins that play essential roles in cytoskeleton organization, cell division, and membrane dynamics. Septins are highly conserved GTPases that form hetero-oligomeric complexes and function as scaffolds and diffusion barriers in cellular compartments.
The septin family consists of 13 members in humans (SEPT1-SEPT12, SEPT14) that assemble into various higher-order structures including filaments, rings, and bundles. {gene_symbol} has been implicated in neurological disorders and neurodegenerative diseases.
SEPT9 encodes septin 9, a member of the septin family of GTP-binding proteins. SEPT9 is unique among septins as it can form homooligomers and is subject to alternative splicing, generating multiple isoforms with distinct functions. SEPT9 plays roles in cytokinesis, membrane trafficking, cytoskeletal organization, and stress response. In neurons, SEPT9 is involved in synaptic function and has been implicated in Parkinson's disease.
Widely expressed with high expression in brain and epithelial tissues. In the brain, SEPT9 is expressed in neurons throughout the cortex, hippocampus, basal ganglia, and substantia nigra.
| Disease | Variants | Inheritance | Mechanism |
|---|---|---|---|
| Hereditary Neuralgic Amyotrophy | R88W, R88Q | Autosomal dominant | Peripheral nerve dysfunction |
| Parkinson's Disease | Various | Risk factor | Altered neuronal function, alpha-synuclein interaction |
| Cancer | Overexpression, amplifications | Somatic | Oncogenic function, cytokinesis defects |